PMID 24713488 2014 Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.
PMID 10958763 2000 A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
PMID 23695285 2013 Stargardt disease: towards developing a model to predict phenotype.
PMID 19074458 2009 ABCA4 disease progression and a proposed strategy for gene therapy.
PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
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PMID 25082885 2014 Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
PMID 20696155 2010 Loss of peripapillary sparing in non-group I Stargardt disease.
PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
rs1800728 in
ABCA4 gene and
Macular dystrophy
PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
PMID 15614537 2005 The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
rs1800728 in
ABCA4 gene and
Macular dystrophy, concentric annular
PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
rs1800728 in
ABCA4 gene and
Retinal Dystrophies
PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
PMID 28118664 2017 Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
PMID 24713488 2014 Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.
PMID 29461686 2018 ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.
PMID 22328824 2012 Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.
PMID 23695285 2013 Stargardt disease: towards developing a model to predict phenotype.
PMID 15614537 2005 The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
PMID 25082885 2014 Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
PMID 26261413 2015 Reduced macular function in ABCA4 carriers.
PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
PMID 22264887 2012 Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
PMID 19074458 2009 ABCA4 disease progression and a proposed strategy for gene therapy.
PMID 10958763 2000 A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
PMID 20696155 2010 Loss of peripapillary sparing in non-group I Stargardt disease.